ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3029G>A (p.Arg1010His) (rs370781594)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521273 SCV000621507 uncertain significance not provided 2017-10-16 criteria provided, single submitter clinical testing The R1010H variant in the SETX gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R1010H variant is observed in 26/30718 (0.08%) alleles from individuals of South Asian background, in the ExAC dataset, and no individuals were reported to be homozygous (Lek et al., 2016). The R1010H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret R1010H as a variant of uncertain significance.

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